Submissions for variant NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)

gnomAD frequency: 0.00121  dbSNP: rs147831309

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698365	SCV000534523	benign	not provided	2018-10-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000425339	SCV000593117	likely benign	not specified	2016-06-30	criteria provided, single submitter	clinical testing
Invitae	RCV000537030	SCV000631759	benign	Alstrom syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000425339	SCV000705097	benign	not specified	2017-01-18	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000425339	SCV000967154	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Ser3914Ser in exon 18 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.37% (61/16494) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs147831309).
Ambry Genetics	RCV002328993	SCV002629876	likely benign	Cardiovascular phenotype	2019-04-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001698365	SCV003916117	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000425339	SCV001926110	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001698365	SCV001927913	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001698365	SCV001966920	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000537030	SCV002079029	benign	Alstrom syndrome	2019-12-09	no assertion criteria provided	clinical testing